Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805087
rs1805087
MTR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.090 GeneticVariation BEFREE The D919G mutation does not seem to be a risk factor for NTD or vascular disease. 9327029

1997

dbSNP: rs1805087
rs1805087
MTR
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.020 GeneticVariation BEFREE The D919G mutation does not seem to be a risk factor for NTD or vascular disease. 9327029

1997

dbSNP: rs1805087
rs1805087
MTR
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.050 GeneticVariation BEFREE We also examined the relationship of a newly identified polymorphism (asp919gly) of the methionine synthase gene (MS) with the risk of colorectal adenomas in the same population. 9886567

1998

dbSNP: rs1805087
rs1805087
MTR
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.020 GeneticVariation BEFREE Thus, the methionine synthase D919G mutation was found to be common in the Japanese general population, and it appears unlikely that this polymorphism has a major effect on homocysteine metabolism and/or the onset of vascular diseases. 9974410

1999

dbSNP: rs1805087
rs1805087
MTR
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.080 GeneticVariation BEFREE Methyltetrahydrofolate reductase (MTHFR) 677C-->T, cystathionine beta synthase (CBS) 68-bp insertion at exon 8, and methionine synthase (MS) 2756A-->G were typed in 685 Australian caucasian patients aged < or =65 years with and without angiographically documented coronary artery disease (CAD). 10487496

1999

dbSNP: rs1805087
rs1805087
MTR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.050 GeneticVariation BEFREE In this study, we examined the relationship of a polymorphism (2756A-->G, asp-->gly) in the gene (MTR) for methionine synthase, another important enzyme in the same folate/methionine/homocyst(e)ine metabolic pathway, with risk of colorectal cancer among 356 cases and 476 cancer-free controls. 10498402

1999

dbSNP: rs1805087
rs1805087
MTR
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE In this study, we examined the relationship of a polymorphism (2756A-->G, asp-->gly) in the gene (MTR) for methionine synthase, another important enzyme in the same folate/methionine/homocyst(e)ine metabolic pathway, with risk of colorectal cancer among 356 cases and 476 cancer-free controls. 10498402

1999

dbSNP: rs1805087
rs1805087
MTR
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 GeneticVariation BEFREE The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate reductase (MTHFR) C677T, and methionine synthase (MS) A2756G (four mutations associated with an increased risk of venous thromboembolism [VTE]) were determined in a sample of approximately 1500 New York State residents. 10963782

2000

dbSNP: rs1805087
rs1805087
MTR
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.050 GeneticVariation BEFREE Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. 11257268

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein marker, cystatin C), genetic polymorphisms and nutritional status in tHcy blood levels in end-stage renal disease patients (ESRD) under hemodialysis and supplemented with folate, we measured tHcy, folate, vitamin B12 (B12), creatinine, cystatin C, albumin and C-reactive protein and determined the polymorphism of methylenetetrahydrofolate reductase (MTHFR) (C677T and A1289C) and of methionine synthase (MS) (A2756G) in 114 ESRD patients before hemodialysis and 76 control subjects. 11592445

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein marker, cystatin C), genetic polymorphisms and nutritional status in tHcy blood levels in end-stage renal disease patients (ESRD) under hemodialysis and supplemented with folate, we measured tHcy, folate, vitamin B12 (B12), creatinine, cystatin C, albumin and C-reactive protein and determined the polymorphism of methylenetetrahydrofolate reductase (MTHFR) (C677T and A1289C) and of methionine synthase (MS) (A2756G) in 114 ESRD patients before hemodialysis and 76 control subjects. 11592445

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.080 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.080 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.050 GeneticVariation BEFREE The G allele of MS A2756G yields an OR of 0.92(95% CI 0.47-1.81) for IS and 1.17 (95% CI 0.58-2.37) for MI. 11672761

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.030 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.020 GeneticVariation BEFREE Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. 11672761

2001

dbSNP: rs1805087
rs1805087
MTR
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.040 GeneticVariation BEFREE Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C1420T), and a double (2R2R) or triple (3R3R) 28-bp tandem repeat in the promoter region of thymidylate synthase (TS) were studied and found to modulate ALL risk. 11986237

2002

dbSNP: rs1805087
rs1805087
MTR
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.030 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935

2002

dbSNP: rs1805087
rs1805087
MTR
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
0.010 GeneticVariation BEFREE Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis. 12476935

2002

dbSNP: rs1805087
rs1805087
MTR
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.040 GeneticVariation BEFREE We analysed genetic polymorphisms for methionine synthase (MS) A2756G, methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C in Caucasians with non-Hodgkin's lymphoma (NHL; n = 151), multiple myeloma (MM; n = 90) and 299 control subjects. 12648076

2003

dbSNP: rs1805087
rs1805087
MTR
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.030 GeneticVariation BEFREE We analysed genetic polymorphisms for methionine synthase (MS) A2756G, methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C in Caucasians with non-Hodgkin's lymphoma (NHL; n = 151), multiple myeloma (MM; n = 90) and 299 control subjects. 12648076

2003

dbSNP: rs1805087
rs1805087
MTR
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 GeneticVariation BEFREE Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffuse large B-cell non-Hodgkin's lymphoma or multiple myeloma. 12648076

2003

dbSNP: rs1805087
rs1805087
MTR
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.090 GeneticVariation BEFREE We detected MTR A2756G and MTRR A66G polymorphisms using PCR-RFLP analysis in a group of NTD infants, their mothers and normal controls. 12649067

2003

dbSNP: rs1805087
rs1805087
MTR
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE This study reports the influence of folate status, DNA methylation, and polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677C-->T and 1298A-->C), methionine synthase (MS 2756A-->G), and cystathionine-beta-synthase (CBS 844ins68) on risk for developing colorectal neoplasia. 12730865

2003

dbSNP: rs1805087
rs1805087
MTR
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 GeneticVariation BEFREE To assess whether the MS A2756G polymorphism holds any influence on AD risk, we have analyzed 172 AD patients and 166 controls. 12876480

2003